C9R (p.Cys9Arg) variant of SATB2 (DNA-binding protein SATB2)
C9R (p.Cys9Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- TOPMed rs1361158169
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available